rs730880268
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs730880268(-;-) |
Make rs730880268(-;CA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 74920649 |
Gene | USH1G |
is a | snp |
is | mentioned by |
dbSNP | rs730880268 |
dbSNP (classic) | rs730880268 |
ClinGen | rs730880268 |
ebi | rs730880268 |
HLI | rs730880268 |
Exac | rs730880268 |
Gnomad | rs730880268 |
Varsome | rs730880268 |
LitVar | rs730880268 |
Map | rs730880268 |
PheGenI | rs730880268 |
Biobank | rs730880268 |
1000 genomes | rs730880268 |
hgdp | rs730880268 |
ensembl | rs730880268 |
geneview | rs730880268 |
scholar | rs730880268 |
rs730880268 | |
pharmgkb | rs730880268 |
gwascentral | rs730880268 |
openSNP | rs730880268 |
23andMe | rs730880268 |
SNPshot | rs730880268 |
SNPdbe | rs730880268 |
MSV3d | rs730880268 |
GWAS Ctlg | rs730880268 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880268(-;-) |
Alt | rs730880268(-;-) |
Reference | Rs730880268(CA;CA) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH1G |
CLNDBN | Usher syndrome, type 1G |
Reversed | 1 |
HGVS | NC_000017.10:g.72916744_72916745delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003049.3, |